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Autism, language and communication in children with sex chromosome trisomies

Bishop, Dorothy V.M., Jacobs, Patricia A., Lachlan, Katherine, Wellesley, Diana, Barnicoat, Angela, Boyd, Patricia A., Fryer, Alan, Middlemiss, Prisca, Smithsom, Sarah, Metcalfe, Kay, Shears, Deborah, Leggett, Victoria, Natiion, Kate and Scerif, Gaia (2011) Autism, language and communication in children with sex chromosome trisomies Archives of Disease in Childhood (doi:10.1136/adc.2009.179747).

Record type: Article


Purpose: Sex chromosome trisomies (SCTs) are found on amniocentesis in 2.3–3.7 per 1000 same-sex births, yet there is a limited database on which to base a prognosis. Autism has been described in postnatally diagnosed cases of Klinefelter syndrome (XXY karyotype), but the prevalence in non-referred samples, and in other trisomies, is unclear. The authors recruited the largest sample including all three SCTs to be reported to date, including children identified on prenatal screening, to clarify this issue.

Design: Parents of children with a SCT were recruited either via prenatal screening or via a parental support group, to give a sample of 58 XXX, 19 XXY and 58 XYY cases. Parents were interviewed using the Vineland Adaptive Behavior Scales and completed questionnaires about the communicative development of children with SCTs and their siblings (42 brothers and 26 sisters).

Results: Rates of language and communication problems were high in all three trisomies. Diagnoses of autism spectrum disorder (ASD) were found in 2/19 cases of XXY (11%) and 11/58 XYY (19%). After excluding those with an ASD diagnosis, communicative profiles indicative of mild autistic features were common, although there was wide individual variation.

Conclusions: Autistic features have not previously been remarked upon in studies of non-referred samples with SCTs, yet the rate is substantially above population levels in this sample, even when attention is restricted to early-identified cases. The authors hypothesise that X-linked and Y-linked neuroligins may play a significant role in the aetiology of communication impairments and ASD.

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Accepted/In Press date: 23 July 2010
Published date: October 2011
Additional Information: Web Only Data adc.2009.179747


Local EPrints ID: 161277
ISSN: 0003-9888
PURE UUID: 0fb14dce-235b-410f-98cb-add453ce6fd3

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Date deposited: 27 Jul 2010 13:34
Last modified: 18 Jul 2017 12:33

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Author: Dorothy V.M. Bishop
Author: Patricia A. Jacobs
Author: Katherine Lachlan
Author: Diana Wellesley
Author: Angela Barnicoat
Author: Patricia A. Boyd
Author: Alan Fryer
Author: Prisca Middlemiss
Author: Sarah Smithsom
Author: Kay Metcalfe
Author: Deborah Shears
Author: Victoria Leggett
Author: Kate Natiion
Author: Gaia Scerif

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